家族性良性慢性天疱疮ATP2C1基因突变检测  

Mutation analysis of ATP2C1 gene in patients with Harley-Harley disease

作　　者：张海贞[1,2] 颜潇潇[3,4] 刘红[1,2] 田洪青[3,4] 王广进[3,4] 杜东红[3,4] 付希安[1,2] 于永翔[1,2] 周桂芝[3,4] 于功奇[1,2] 刘华绪[1,2] 张福仁[1,3,2,4] 

机构地区：[1]山东省皮肤病性病防治研究所,济南250022 [2]山东省皮肤性病学重点实验室,济南250022 [3]山东省皮肤病医院,济南250022 [4]山东省皮肤性病学临床医学中心,济南250022

出　　处：《中国麻风皮肤病杂志》2011年第9期605-607,共3页China Journal of Leprosy and Skin Diseases

摘　　要：目的:检测家族性良性慢性天疱疮ATP2C1基因突变。方法:提取20例患者和100例健康对照者的外周血DNA,采用聚合酶链反应(PCR)扩增ATP2C1基因的全部外显子,用直接测序法进行DNA测序,检测ATP2C1基因突变。结果:20例患者中检测到9种突变,包括4种缺失突变(167或168delC,2374delTTTG,2454delT,2558delTGGGACAATT),3种错义突变(I711R,Q737R,I580V),2种无义突变(R55X,R799X),健康对照者中未检测到上述突变。其中167或168delC,2454deIT,2558delT-GGGACAATT,I711R,Q737R为新发现的突变位点。结论:家族性良性慢性天疱疮存在遗传异质性。Objective： To detect mutations of ATP2C1 gene in patients with Hailey-Hailey disease （HHD）. Methods： DNA was extracted from blood samples of 20 HHD patients and 100 unrelated healthy controls. Polymerase chain reaction （PCR） and direct sequencing of ATP2C1 gene were performed to identify the mutations. Resuits： Ninedifferent mutations including four deletion mutations（167 or 168delC, 2374delTFFG, 2454delT, 2558- delTGGGACA ATY）, three missense mutations（I711R, Q737R, I580V） and two nonsense mutations （R55X, R799X） were identified in these cases. Five of them （167 or 168delC, 2454de1T, 2558del GGGACAATF, I711R, Q737R） were novel. No mutation was detected in controls. Conclusions： There exits heterogeneous heritage in HHD.

关 键 词：家族性良性慢性天疱疮 ATP2C1基因 基因突变 

分 类 号：R758.66[医药卫生—皮肤病学与性病学]